云南高校图书馆联盟文献共享服务平台- FAMILIAL

FAMILIAL: 作品数：279被引量：454H指数：10; 导出分析报告; 相关领域：医药卫生更多>>; 相关作者：江从庆钱群张秋雷张亚倩黄朔更多>>; 相关机构：首都医科大学中国科学院植物研究所华中科技大学首都医科大学附属北京天坛医院更多>>; 相关期刊：更多>>; 相关基金：国家自然科学基金国家重点基础研究发展计划广东省自然科学基金国家高技术研究发展计划更多>>

MYH7 mutation in a pedigree with familial dilated hypertrophic cardiomyopathy:A case report and review of literature: 《World Journal of Clinical Cases》2025年第15期22-31,共10页Ying Hong Zhen Fan Yi Guo Hui-Hui Ma Sheng-Zhi Zeng Hu-Tao Xi Jing Yang Kai Luo Rong Luo Xiao-Ping Li; Supported by National Natural Science Foundation of China,No.81770379.; BACKGROUND Hypertrophic cardiomyopathy(HCM)is one of the most prevalent inherited myocardial disorders and is charac-terized by considerable genetic and phenotypic heterogeneity.A subset of patients with HCM progress ...; 关键词：Dilated phase of hypertrophic cardiomyopathy PEDIGREE MYH7 gene Missense mutation Literature review Case report

Comprehensive impact of PPARG mutations in familial partial lipodystrophy type 3:Diagnosis,therapeutic strategies: 《World Journal of Diabetes》2025年第4期310-313,共4页Heng-Li Lai Liu Yang; This article reviews a paper in the World Journal of Diabetes.The study uncovers the link between PPARG gene mutations and metabolic disorders,such as insulin resistance,diabetes,and hypertriglyceridemia,and emphasize...; 关键词：Familial partial lipodystrophy type 3 Genetic testing Metabolic disorders Personalized treatment

Renal glucosuria in children: 《World Journal of Clinical Pediatrics》2025年第1期46-54,共9页Meral Torun Bayram Salih Kavukcu; The kidneys play a critical role in maintaining glucose homeostasis.Under normal renal tubular function,most of the glucose filtered from the glomeruli is re-absorbed in the proximal tubules,leaving only trace amounts...; 关键词：Sodium-glucose cotransporters Basolateral glucose transporters Familial renal glucosuria Intestinal glucose-galactose malabsorption Fanconi-Bickel syndrome Sodium-glucose cotransporter 2 inhibitors

Characteristics and therapeutic strategies for familial gastrointestinal stromal tumors: 《World Journal of Gastrointestinal Oncology》2025年第3期13-18,共6页Yuan Liu Xiao-Feng Li; National Natural Science Foundation of China,No.82370569;Basic and Applied Basic Research Foundation of Guangdong Province,No.2022A1515012647;the Key Program for Science and Technology Projects of Social Development in Zhuhai,No.2220004000249(to Li XF).; This editorial discusses Wang et al's article on familial gastrointestinal stromal tumors(GISTs).We read with great interest this article concerning the diagnosis,treatment,and post-treatment management of patients wi...; 关键词：Gastrointestinal stromal tumors KIT mutation Platelet-derived growth factor receptor alpha mutation Wild-type gastrointestinal stromal tumor Tyrosine kinase inhibitors Familial gastrointestinal stromal tumor syndromes Molecular characteristics Targeted therapy

Identification of EPOR and JAK2 double heterozygous variants in twin cases with familial erythrocytosis: 《Science China(Life Sciences)》2025年第3期880-883,共4页Wenqian Li Guoxiong Han Xiaorui Wang Kuo Shen Youbang Xie; supported by the Translational Research Grant of NCRCH (2021WWB04);the Clinical Research Center for Blood System Diseases of Qinghai Province (2021-SF-136);the 2022 “Kunlun Yingcai” Advanced Innovation and Entrepreneurship Top-notch Talents Project in Qinghai Province;the National Natural Science Foundation of China(81960027).; Dear Editor,Polycythemia,defined by an elevated red blood cell(RBC)count and increased hemoglobin(Hb)levels,is not typically associated with leukocytosis or thrombocytosis(Lund and Anholm,1957).Familial erythrocytosis...; 关键词：elevated typically

Pathological features of non-alcoholic steatohepatitis in a pediatric patient with heterozygous familial hypobetalipoproteinemia:A case report: 《World Journal of Hepatology》2025年第2期286-292,共7页Kiwako Miyamoto Sonoko Kondo Takeo Kondo Ryou Ishikawa Ryosuke Tani Tomoko Inoue Keiji Matsunaga Tetsuo Minamino Takashi Kusaka; BACKGROUND Heterozygous familial hypobetalipoproteinemia(FHBL)is a semi-autosomal disorder that is caused mainly by an APOB variant.It is usually asymptomatic and rarely leads to non-alcoholic steatohepatitis(NASH).CA...; 关键词：Nonalcoholic steatohepatitis Familial hypobetalipoproteinemia HYPOLIPIDEMIA APOB variant Vitamin E Case report

A revised classification of Dryopteridaceae based on plastome phylogenomics and morphological evidence,with the description of a new genus,Pseudarachniodes: 《Plant Diversity》2025年第1期34-52,共19页Zheng-Yu Zuo Germinal Rouhan Shi-Yong Dong Hong-Mei Liu Xin-Yu Du Li-Bing Zhang Jin-Mei Lu; funded by the National Natural Science Foundation of China(Grant No.31970232);the National Key Basic Research Program of China(Grant No.2014CB954100).; Dryopteridaceae are the largest fern family and include nearly 20%of extant fern diversity,with 24 currently recognized genera.Recognition and delineation of genera within this family have varied greatly.The three-sub...; 关键词：Ctenitidoideae Infra-familial Morphological diagnostic characters PHYLOGENOMICS Rachis-costae architecture Stigmatopetris

Analysis of SMOC2 gene variants in familial and nonfamilial primary open angle glaucoma Pakistani patients: 《International Journal of Ophthalmology(English edition)》2024年第12期2185-2191,共7页Ashok Kumar Narsani Feriha Fatima Khidri Muhammad Rafiq Jalpa Bai Hina Shaikh Yar Muhammad Waryah Syed Habib Ahmed Naqvi Preety Kumari Mahesh Kumar Lohano Ali Muhammad Waryah; Supported by Higher Education Commission of Pakistan(NRPU#2835);Pakistan Science Foundation Project No.Biotech 101,funded to Professor Dr.Ali Muhammad Waryah.; AIM:To find out the association of secreted protein acidic and rich in cysteine(SPARC)-related modular calcium binding 2(SMOC2)gene variants rs2255680 and rs13208776 with genotypic and phenotypic characteristics in bo...; 关键词：GLAUCOMA primary open angle glaucoma SMOC2 GENE VARIANT FAMILIAL non-familial

First insights into genotype and phenotype of familial amyotrophic lateral sclerosis in Egypt:early onset and high consanguinity: 《Frontiers of Medicine》2024年第6期1115-1118,共4页Nabila Hamdi Kathrin Mueller Amr Hamza Radwa Soliman Enass Onbool Kareem Omran Omnia Ocab Axel Freischmidt Reiner Siebert Albert Ludolph Nagia Fahmy; Dear Editor,Significant progress has been made in understanding the genetics of amyotrophic lateral sclerosis(ALS),particularly in European populations.However,a substantial proportion of familial ALS(fALS)cases remai...; 关键词：amyotrophic FAMILIAL DEGENERATION

Identification of a novel germline APC N-terminal pathogenic variant associated with attenuated familial adenomatous polyposis: 《Genes & Diseases》2024年第6期12-15,共4页Giovanna Forte Valentina Grossi Filomena Cariola Antonia Lucia Buonadonna Paola Sanese Katia De Marco Candida Fasano Martina Lepore Signorile Vittoria Disciglio Cristiano Simone; Adenomatouspolyposis coli(APC)is akey tumor suppressor gene playing a central role in the Wnt signaling pathway throughβ-catenin down-regulation.1 APC germline pathogenic variants are associated with familial adenoma...; 关键词：POLYPOSIS adenomatous FAMILIAL

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